| 51 |
32094922 | Endosome motility defects revealed at super-resolution in live cells using HIDE probes. | 2020 Apr |
1 |
| 52 |
32107002 | Management of metabolic syndrome and reduction in body weight in type II diabetic mice by inhibiting glycosphingolipid synthesis. | 2020 Apr 30 |
2 |
| 53 |
32114296 | An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene. | 2020 Apr |
3 |
| 54 |
32144825 | High-content imaging and structure-based predictions reveal functional differences between Niemann-Pick C1 variants. | 2020 May |
3 |
| 55 |
32204338 | Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability. | 2020 Mar 19 |
3 |
| 56 |
32248828 | Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations. | 2020 Apr 5 |
1 |
| 57 |
32331453 | Cholesterol Transport in Wild-Type NPC1 and P691S: Molecular Dynamics Simulations Reveal Changes in Dynamical Behavior. | 2020 Apr 22 |
2 |
| 58 |
32354745 | Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid. | 2020 Jun 5 |
2 |
| 59 |
32369555 | Materno-fetal cholesterol transport during pregnancy. | 2020 Jun 30 |
2 |
| 60 |
32371106 | Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease. | 2020 Sep |
1 |
| 61 |
32385114 | Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation. | 2020 Jul 3 |
3 |
| 62 |
32387451 | Pre-mRNA splicing defects and RNA binding protein involvement in Niemann Pick type C disease. | 2020 Jul 20 |
2 |
| 63 |
32392809 | Selective Degradation Permits a Feedback Loop Controlling Annexin A6 and Cholesterol Levels in Endolysosomes of NPC1 Mutant Cells. | 2020 May 7 |
2 |
| 64 |
32410728 | Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins. | 2020 May 15 |
5 |
| 65 |
32413315 | Cholesterol Handling in Lysosomes and Beyond. | 2020 Jun |
2 |
| 66 |
32457374 | 2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy. | 2020 May 26 |
4 |
| 67 |
32544384 | Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2. | 2020 Jul 9 |
4 |
| 68 |
32550989 | Design and Synthesis of Tetrazole- and Pyridine-Containing Itraconazole Analogs as Potent Angiogenesis Inhibitors. | 2020 Jun 11 |
1 |
| 69 |
32572769 | Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease. | 2020 Oct |
2 |
| 70 |
32698040 | Cholesterol metabolism: New functions and therapeutic approaches in cancer. | 2020 Aug |
1 |
| 71 |
32898135 | A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS. | 2020 |
1 |
| 72 |
32993765 | Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat. | 2020 Sep 29 |
2 |
| 73 |
33021976 | Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain. | 2020 Oct |
8 |
| 74 |
33144569 | A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. | 2020 Nov 3 |
5 |
| 75 |
33163944 | c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder. | 2020 Nov 20 |
5 |
| 76 |
33225153 | Effect of pH on the Ability of N-Terminal Domain of Human NPC1 to Recognize, Bind, and Transfer Cholesterol. | 2020 Nov 17 |
5 |
| 77 |
33257258 | Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. | 2020 Dec |
1 |
| 78 |
33360098 | Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual. | 2020 Dec 15 |
1 |
| 79 |
30216584 | Cyclodextrin-Based Macromolecular Systems as Cholesterol-Mopping Therapeutic Agents in Niemann-Pick Disease Type C. | 2019 Jan |
2 |
| 80 |
30390318 | Activation of mammalian terget of rapamycin kinase and glycogen synthase kinase-3β accompanies abnormal accumulation of cholesterol in fibroblasts from Niemann-Pick type C patients. | 2019 Apr |
3 |
| 81 |
30710017 | NPC intracellular cholesterol transporter 1 (NPC1)-mediated cholesterol export from lysosomes. | 2019 Feb 1 |
4 |
| 82 |
30790261 | Purification and Characterization of Human Niemann-Pick C1 Protein. | 2019 |
3 |
| 83 |
30820861 | Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene. | 2019 Sep |
2 |
| 84 |
30876856 | Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C. | 2019 Jul |
1 |
| 85 |
30942586 | Computational Tools Unravel Putative Sterol Binding Sites in the Lysosomal NPC1 Protein. | 2019 May 28 |
2 |
| 86 |
31098815 | Insights into the Molecular Mechanisms of Cholesterol Binding to the NPC1 and NPC2 Proteins. | 2019 |
4 |
| 87 |
31267706 | Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice. | 2019 Jul |
1 |
| 88 |
31278313 | Adenosine A2A receptor stimulation restores cell functions and differentiation in Niemann-Pick type C-like oligodendrocytes. | 2019 Jul 5 |
4 |
| 89 |
31296176 | Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients. | 2019 Jul 11 |
2 |
| 90 |
31535451 | NPC1 enables cholesterol mobilization during long-term potentiation that can be restored in Niemann-Pick disease type C by CYP46A1 activation. | 2019 Nov 5 |
3 |
| 91 |
31535581 | Drugs used in the treatment of bipolar disorder and their effects on cholesterol biosynthesis - A possible therapeutic mechanism. | 2019 Dec |
1 |
| 92 |
31537798 | NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress. | 2019 Sep 19 |
4 |
| 93 |
31548609 | ER-lysosome contacts enable cholesterol sensing by mTORC1 and drive aberrant growth signalling in Niemann-Pick type C. | 2019 Oct |
4 |
| 94 |
31580258 | Intracellular cholesterol trafficking is dependent upon NPC2 interaction with lysobisphosphatidic acid. | 2019 Oct 3 |
2 |
| 95 |
31601621 | Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity. | 2019 Dec 2 |
2 |
| 96 |
31699992 | Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process. | 2019 Nov 7 |
4 |
| 97 |
31754021 | Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation. | 2019 Dec |
1 |
| 98 |
31787922 | Mitochondrial Cholesterol in Alzheimer's Disease and Niemann-Pick Type C Disease. | 2019 |
3 |
| 99 |
31843136 | The characteristics and biological significance of NPC2: Mutation and disease. | 2019 Oct - Dec |
2 |
| 100 |
31858076 | Cholesterol Overload: Contact Sites to the Rescue! | 2019 Jan 1 |
2 |